Birth Defects in South Africa:

surveillance, registries and

the role of the healthcare

practitioner

Dr Helen Malherbe

KRISP, School of Laboratory Med ic ine &

Med ica l Scienc e

Wits UpToSPAED Conferenc e

21 June 2019

Overview

• Definitions• Birth defects in South Africa:

• Epidemiology• Policy & legislation• Genetic Services

• Surveillance: what, why, where, how & who?• SA congenital disorders data 2006-2014 • Registries• The healthcare practitioner

Congenita l abnormalities

Congenita l anomalies

Genetic d isorders

Congenita l malformations

Geboorte afwyking

Congenita l infec tion

Boloetse tsoalo

Inherited disorder

Chromosomal defec t

Genetic d isease

Birth defect

Congenital disorderFamilial diseases

Rare Diseases

kwasekuza lweniAangebore afwyking

Pakuberekwa urema

Runs in the family

One in a million

Congenital disorders….”Any potential

pathological condition

arising before birth,

including all disorders

caused by environmental,

genetic or unknown

factors, whether evident

at birth or manifest later

in life”

Birth defects….”Abnormalities in

structure or function,

including metabolism,

which are present from

birth”

WHO, 2006.

Teratogens/

environmenta l

Multifac torial/

Genetic risk

Monogenic & congenita l

malformations

Chromosomal

disorders

Congenita l

anomalies

(ICD-10

Chap ter XVII)

Ra

re D

ise

ases

Co

ng

en

ita

l D

iso

rde

rs o

r

birth

de

fec

ts

Congenital disorders ≠ congenital anomalies

Single gene

disorders

Terms usedRanking (top 10)

(PUBMED Title abstract ) from 1 Jan 2016 - 30 September 2017

Number Hits Percentage

1 Congenital anomaly/ies 1 645 21%

2 Genetic disorder/s 957 12%

3 Chromosomal abnormality/ies 739 10%

4 Genetic disease/s 695 9%

5 Congenital abnormality/ies 573 7%

6 Genetic abnormality/ies 513 7%

7 Genetic mutation/s 436 6%

8 Congenital malformation/s 376 5%

9 Genetic defect/s 269 4%

10 Birth defect/s 264 3%

11 Congenital disorder/s 225 3%

12 Fetal anomaly/ies 207 3%

13 Congenital disease 138 2%

14 Fetal abnormality/ies 135 2%

15 Teratogens 122 2%

16 Genetic syndrome/s 118 2%

17 Congnital defect/s 87 1%

18 Congenital deformity/ies 80 1%

19 Fetal malformation/s 50 1%

20 Chromosomal disorder/s 32 0%

Total 7 661 100%

70 000(7%) live births

annually affected

by congenital

disorders in SA

Of which 80.5% genetic /partia lly genetic 19.5% teratogens (FAS major

fac tor)

Malherbe et al, 2015. S Afr Med J 2015;105(3):186-188.

1 in every 15 live

births affected by

a congenital

disorder

South Africa

SA

Source: Malherbe et al, SAJBL, May 2016 9(1)

South Africa: an upper middle income country

70%• 40% effec tively cured

• 30% trea ted to improve qua lity of life/mitigate d isab ility

• Cost to NO CARE

Czeizel, BMJ, 1993

CDs can be prevented or ameliorated

Genetic Services

Health measures to help those

with or at risk of a genetic

disadvantage to live and

reproduc e as normally as

possible. Services inc lude:

• Early, ac c urate diagnosis

• Long-term & antic ipa tory care

• Genetic counselling &

psychosoc ial care

Individual level: meet needs &

reduc e suffering

Population level: prevention to

reduc e burden of disease

“Care is an absolute,

prevention the ideal”

Ma

lherb

e, H., et a

l. (20

16

). Sou

th A

frican

Hea

lth R

eview 2

01

6. D

urb

an

, Hea

lth

Systems Tru

st: 13

7-1

52

.Overview of medical genetic services across healthcare in South AfricaX= service in placeS=service required

Polic y & Legisla tion

• Children’s Act (38 of 2005)• Choice on Termination of Pregnancy Act (92

of 1996)• Constitution of the Republic of South Africa

(Act 108 of 1996)• Health Professions Act (56 of 1974)• Medicines and Related Substances Act (101 of

1965)• Mental Health Care Act (17 of 2002)• Medical Schemes Act (131 of 1998)• National Health Act (61 of 2003)• National Health Insurance (NHI) Policy• National Health Laboratory Service (NHLS) Act

(37 of 2000)• National Public Health Institute of South

Africa (NAPHISA)• Nursing Act (33 of 2005)• Social Assistant Act (13 of 2004)

National Health Ac t (61 of 2003) Sec tion 21:

The Director General of the National

Department of Health must, in

accordance with national health policy,

B) issue and promote adherence to,

norms and standards on health matters

including vii) genetic services

rapid decline in childhood mortality

rate stopped abruptly in 2011...

… future improvements have to come from

improvement in non-HIV causes of death

Adapted from: Dorrington et al 2019. Rapid Mortality Surveillance Report 2017. MRC.

South Africa 2000-2017: Under‐5 Mortality rate (U5MR) & Infant Mortality Rate (IMR) from VR/RMS; Neonatal Mortality Rate (NMR) from VR/DHIS (Adjusted)

Data Deficit

• Nationa l Department of Hea lth

System

• Under-reporting by 98%

• Data reported 2006-2014

• 13 252 CDs notified over 8 years

The Cycle Lack of prioritisation

Neglectedservices

Non-diagnosis& mis-diagnosis

Inadequate data

Underreporting

Underestimate of CD burden

Congenital Disorders

Malherbe et al, South African Health Review 2016

Surveillanc e:What? The ongoing and systematic collection, analysis,

and interpretation of health data essential for public health practice, closely integrated with the timely dissemination of these data to those who need to know.

The final link of the surveillance chain is the application of these data to prevention and control (Centers for Disease Control, 1988).

Light, Wexlar & Heinz, 2004.

Surveillanc e:What? Information ob jec tives of a surveillanc e

system:

• What are you going to collec t and why?

• How are you going to use it?

• You cannot collec t everything!

• Regular & timely system

• Target aud ienc es?

• SMART ob jec tives

• NOT a survey

• NOT a registry

• Surveillance aims to improve the health of

populations

Surveillance: Why?Evidence Based

ApproachInformed Policy

& Research

Targeted

Services/Funding

Policy Making Inertia

Inadequate

Services

Modelling

Lack of Evidence

Research

Surveillance Programmes

1. Defining the objectives (to meet needs) Plannning

(Adapted from Groisman, B. 2018)

Surveillanc e:Where?

National Survaillence

DOH

Tertiary

PHC

NGOsPrimary

Labs

Private Practice

Surveillanc e:How?

Surveillanc e:Who? • Nurses

• Paed iatricians & other spec ialists

• GPs & Med ica l Officers

• Genetic Counsellors

• Laboratory Scientists

• Community Health Care Workers

• Families, care givers & pa tients

• …

This study presenta tion is limited to

the content of the pub lished

paper: Lebese L, Aldous C,

Malherbe H. South African

congenita l disorders da ta , 2006 -

2014. S Afr Med J.

2016;106(10):992-5 in the capac ity

of Helen Malherbe as a co-author

as a Post-Doc toral Research

Fellow at the University of KwaZulu

Nata l, South Africa .

Disclaimer

Context

• 1980: Pilot surveillanc e

• 2001: Nationa l Policy Guidelines

• 2006: Birth Defec ts Notifica tion Tool (BDNT)

• 2016: Descrip tive, retrospec tive study of da ta 2006-2014

Aims

• Incidence and prevalence rates of specific CDs in South Africa

• Determine priorities for intervention• Inform effective planning• Set objectives for prevention and care• Data evaluation and provision of feedback

to provinces, health areas and health districts

Case Definitions

Malherbe et al, South African Health Review 2016

• Down syndrome

• neural tube defects

• albinism

• microcephaly

• isolated cleft lip and/or palate

• isolated hydrocephalus

• club foot

• congenital infections

• genetic deafness

• genetic blindness

• physical handicap

• mental retardation

2001 2006*

• Limited to CDs identifiable/measurable within 24 hours of birth (or later)

• Priority conditions for monitoring:

*National Guidelines for the Care and Prevention of the Most Common Genetic Disorders, Birth Defects and Disabilities

BDNT: Methods

Case ascertainment

MGEP: 729 Trained HCP

Identification code e.g. 001/06

Data quality Analysis, Data

use?

Overview

• Population based

• 24 hours of birth (+)

• Al pregnancy outcomes monitored:

• Livebirths

• Stillbirths

• Terminations

• Miscarriages

• Passive system

• Single source

• Paper-based

• Zero notifications

• Data submitted by range of health care

professionals:

• 729 trained between 2006-2014

• Majority labour ward nurses

• Medical Genetics Education Programme

(MGEP)

• Tailored coding system (non ICD-10

compatible)

YearZero

notifica tions

CDs

reported

Expec ted CD

notifica tions*

Ac tua l

notifica tions as

% of expec ted

2006 77 647 78201 0.83%

2007 109 1 338 79019 1.69%

2008 112 1 449 79914 1.81%

2009 135 1 854 80829 2.29%

2010 89 1 745 81680 2.14%

2011 387 2 401 82349 2.92%

2012 232 2 174 83118 2.62%

2013 119 1032 83821 1.23%

2014 59 612 84460 0.72%

Tota l 1319 13252 733391 1.81%

South Africa 2006 – 2014: reported CDs compared with expected numbers

Lebese et al 2016. S Afr Med J 106(10): 992-995. *Based on modelled/estimated figure of 6.8% of live births affec ted

by CD per annua l number of births (Malherbe et al 2015)

Results

Gauteng12.07%

KwaZulu-Natal54.47%

Eastern Cape5.49%

Western Cape2.50%

North West4.06%

Mpumalanga6.32%

Free State5.61%

Northern Cape5.39%

Limpopo4.08%

South Africa 2006-2014 by province: CD reporting breakdown

Lebese et al 2016. S Afr Med J 106(10): 992-995.

South Africa 2006-2014 by province:

Number of CD notifications

0

200

400

600

800

1000

1200

1400

1600

2006 2007 2008 2009 2010 2011 2012 2013 2014

Nu

mb

er o

f C

D N

oti

fica

tio

ns

Year

Eastern Cape Free State Gauteng Kwa-Zulu Natal Limpopo

Mpumalanga North West Northern Cape Western Cape

Lebese et al 2016. S Afr Med J 106(10): 992-995.

South Africa 2006-2014:

Pregnancy outcomes CD reported by facilities

Live Birth; 86%

Miscarriage; 0%

Still Birth; 6%

Terminations of Pregnancy; 1% Not Recorded;

7%

Lebese et al 2016. S Afr Med J 106(10): 992-995.

South Africa 2006-2014: Number of priority CDs notified (36%)

73

290

344

787

934

1087

1236

0 200 400 600 800 1000 1200 1400

Fetal Alcohol Syndrome

Multiple priority CDs

Albinism

Neural Tube Defects

Cleft lip and/or palate

Talipes Equinovarus

Down syndrome

Cases notified

Pri

ori

ty C

Ds

Other CDs Number %

Named diagnosis 1497 17.63

Abdomen 461 5.43

Arms 88 1.04

Chest 81 0.95

Fac e 464 5.46

Feet 156 1.84

GIT 498 5.86

Genita ls 379 4.46

Hands 1775 20.9

Heart 574 6.76

Legs 391 4.6

Skin 9 0.11

Skull 659 7.77

Urinary System 100 1.18

Multip le Systems/struc ture 1360 16.02

Tota l OCDs 8492

South Africa 2006-2014: Other congenital disorders (OCDs) notified

• OCDs 64% reported CDs

• Only 18% OCDs

diagnosed

• Abnormal body system

reported with description

Lebese et al 2016. S Afr Med J 106(10): 992-995.

Challenges

• Poor data quantity – 98% underreporting• Poor data quality – incomplete, illegible &

late• Erratic compliance by the districts (46/52)• Lack of sustained training• Misdiagnosed/undiagnosed CDs• Lack of/ongoing poor coordination• Single source: excludes private healthcare

sector, labs & other data sets• Autonomous functioning of provinces• Incompatible & incomparable with other

systems (ICD-10)

Current…

• Population based

• Case definition

• Non-ICD 10 compliant

• Passive collection

• Single sourced

• Paper-based

• Optional?

• Ltd update/underrporting

• Low quality data

• No reporting or feedback

• No policy integration

WHO, 2006.

Future…?

• Sentinal sites

• Revised case definition

• ICD 10/11 compliant

• Active collection

• Multi-sourced (labs)

• Electronic & paper

• Mandatory?

• Successful pilots – expand

• Data quality assurance

• Feedback to data providers

• Input into policy

(Boris Groisman, 2018)

Registry • Spec ific , variab le aims

• Timeliness?

• Diversity of formats

• Non-c ompliant

• Legal & ethica l issues (POPI)

• And…

• BUT: Potential data source

• If generic format

• Ethics & legal

•

Collec tions of da ta

related to pa tients,

often spec ific to

d iseases

Registries• NPO Support group registries: e.g. haemophilia, OFCs, c lub foot. Preva lenc e rates for

advoc ac y, awareness, support and fundraising.

• National Cancer Registry: Mandatory reporting/notifiab le disease.

• SA Heart Registry:

• Paediatric Tumour Registry:

• Antiretroviral pregnancy registry: 2 attempts to da te

• EUROCAT: network of population based registries for ep idemiologica l surveillanc e of

congenita l anomalies (1.5 million births in 20 European countries).

The healthc are pra c titioner

• Early identification & accurate

diagnosis

• Be open to zebras…

• Lay expertise?

• Partic ipa tion & ownership in

da ta proc ess

• Research & other da ta?

Targets for 2030:

• End preventab le dea ths of newborns & children under 5 years of age…. Reduc ing neona ta l morta lity to at least as low as 12 per 1,000 live births and under-5 morta lity to at least as low as 25 per 1,000 live births

• Reduc e premature morta lity by one third from NCDs

Acknowledgements

Professor Colleen Aldous, UKZN

Mrs Vuyiswa Lebese, NDOH

Professor Arnold Christianson, WiCE, Wits

Dr Boris Groisman, ICBDSR/RENAC, Argentina

Helen@hmconsult.co.za